Lista de obras -

A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants

scientific article published on 19 November 2020

A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia

scientific article published on 29 August 2020

A functional role for TorsinA in herpes simplex virus 1 nuclear egress

artículo científico publicado en 2011

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

artículo científico publicado en 2008

A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2 ⬇️

artículo científico publicado el 5 de octubre de 2013

Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia.

artículo científico publicado en 2004

Abnormal Weight and Body Mass Index in Children with Juvenile Huntington's Disease

artículo científico publicado en 2015

Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.

artículo científico publicado en 2015

Addressing the Value of Multidisciplinary Clinical Care in Huntington's Disease: A Snapshot of a New Huntington's Disease Center

artículo científico publicado en 2019

Animal models for drug discovery in dystonia ⬇️

artículo científico publicado el 1 de enero de 2008

Attitudes of Potential Participants Towards Molecular Therapy Trials in Huntington's Disease

Author response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

scientific article published on 01 May 2020

Biallelic TOR1A variants in an infant with severe arthrogryposis

artículo científico publicado en 2017

Broad distribution of ataxin 1 silencing in rhesus cerebella for spinocerebellar ataxia type 1 therapy

artículo científico publicado en 2015

Cell-autonomous alteration of dopaminergic transmission by wild type and mutant (DeltaE) TorsinA in transgenic mice.

artículo científico publicado en 2010

Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature

artículo científico publicado en 2006

Clinical predictors of driving status in Huntington's disease

artículo científico publicado en 2012

Clinical, Etiological, and Therapeutic Features of Jaw-opening and Jaw-closing Oromandibular Dystonias: A Decade of Experience at a Single Treatment Center

artículo científico publicado en 2014

Cognitive dysfunctions in middle-aged type 2 diabetic patients and neuroimaging correlations: a cross-sectional study

artículo científico

Contrast Acuity and the King-Devick Test in Huntington's Disease

scientific article published on 25 November 2019

DYT1 knock-in mice are not sensitized against mitochondrial complex-II inhibition

artículo científico publicado en 2012

Delineation of the motor disorder of Lesch-Nyhan disease

artículo científico publicado en 2006

Descriptions of cervical dystonia by Sir Charles Bell

artículo científico publicado en 2010

Disruption of Protein Processing in the Endoplasmic Reticulum of DYT1 Knock-in Mice Implicates Novel Pathways in Dystonia Pathogenesis.

artículo científico publicado en 2016

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

artículo científico publicado en 2014

Exploring the influence of torsinA expression on protein quality control

artículo científico publicado en 2010

Exploring the link between dystonia genes and idiopathic scoliosis

artículo científico publicado en 2013

FBG1 is a promiscuous ubiquitin ligase that sequesters APC2 and causes S-phase arrest.

artículo científico publicado en 2010

Genetic test utilization and diagnostic yield in adult patients with neurological disorders

scientific article published on 28 March 2018

High prevalence of reported tremor in Klinefelter syndrome

artículo científico publicado en 2008

Huntington's disease in children

artículo científico publicado el 1 de enero de 2013

Idiopathic brachial neuritis.

artículo científico publicado en 2002

Isolated high-frequency jaw tremor relieved by botulinum toxin injections

artículo científico publicado en 2006

Lentivirus-mediated RNA interference in mammalian neurons

artículo científico publicado en 2008

Monogenic variants in dystonia: an exome-wide sequencing study

scientific article published on 01 November 2020

Moyamoya‐induced paroxysmal dyskinesia ⬇️

artículo científico publicado el 1 de septiembre de 2003

PPP2R5D genetic mutations and early-onset parkinsonism

artículo científico publicado en 2020

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders

artículo científico publicado en 2013

Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

artículo científico publicado en 2019

RNA interference in neuroscience: progress and challenges

artículo científico publicado en 2005

RNAi prevents and reverses phenotypes induced by mutant human ataxin-1.

scientific article published on 30 September 2016

Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation ⬇️

journal article from 'International Journal of Molecular Sciences' published in 2021

Residency training: a failed lumbar puncture is more about obesity than lack of ability

artículo científico publicado en 2015

Sex-specific effects of the Huntington gene on normal neurodevelopment

artículo científico publicado en 2017

Silencing neurodegenerative disease: bringing RNA interference to the clinic

artículo científico publicado en 2006

Splice Isoforms of the Polyglutamine Disease Protein Ataxin-3 Exhibit Similar Enzymatic yet Different Aggregation Properties ⬇️

artículo científico publicado el 27 de octubre de 2010

Substance abuse may be a risk factor for earlier onset of Huntington disease.

artículo científico publicado en 2012

THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation.

artículo científico publicado en 2017

Technology insight: therapeutic RNA interference--how far from the neurology clinic?

artículo científico publicado en 2007

The inherited dystonias

artículo científico publicado en 2007

Therapeutic RNA interference for neurodegenerative diseases: From promise to progress

artículo científico publicado en 2007

Towards precision medicine

artículo científico publicado en 2018

Two cases of pregnancy in Parkinson's disease

artículo científico publicado en 2013

Lista de obras de

A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants

A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia

A functional role for TorsinA in herpes simplex virus 1 nuclear egress

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2 ⬇️

Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia.

Abnormal Weight and Body Mass Index in Children with Juvenile Huntington's Disease

Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.

Addressing the Value of Multidisciplinary Clinical Care in Huntington's Disease: A Snapshot of a New Huntington's Disease Center

Animal models for drug discovery in dystonia ⬇️

Attitudes of Potential Participants Towards Molecular Therapy Trials in Huntington's Disease

Author response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

Biallelic TOR1A variants in an infant with severe arthrogryposis

Broad distribution of ataxin 1 silencing in rhesus cerebella for spinocerebellar ataxia type 1 therapy

Cell-autonomous alteration of dopaminergic transmission by wild type and mutant (DeltaE) TorsinA in transgenic mice.

Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature

Clinical predictors of driving status in Huntington's disease

Clinical, Etiological, and Therapeutic Features of Jaw-opening and Jaw-closing Oromandibular Dystonias: A Decade of Experience at a Single Treatment Center

Cognitive dysfunctions in middle-aged type 2 diabetic patients and neuroimaging correlations: a cross-sectional study

Contrast Acuity and the King-Devick Test in Huntington's Disease

DYT1 knock-in mice are not sensitized against mitochondrial complex-II inhibition

Delineation of the motor disorder of Lesch-Nyhan disease

Descriptions of cervical dystonia by Sir Charles Bell

Disruption of Protein Processing in the Endoplasmic Reticulum of DYT1 Knock-in Mice Implicates Novel Pathways in Dystonia Pathogenesis.

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

Exploring the influence of torsinA expression on protein quality control

Exploring the link between dystonia genes and idiopathic scoliosis

FBG1 is a promiscuous ubiquitin ligase that sequesters APC2 and causes S-phase arrest.

Genetic test utilization and diagnostic yield in adult patients with neurological disorders

High prevalence of reported tremor in Klinefelter syndrome

Huntington's disease in children

Idiopathic brachial neuritis.

Isolated high-frequency jaw tremor relieved by botulinum toxin injections

Lentivirus-mediated RNA interference in mammalian neurons

Monogenic variants in dystonia: an exome-wide sequencing study

Moyamoya‐induced paroxysmal dyskinesia ⬇️

PPP2R5D genetic mutations and early-onset parkinsonism

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders

Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

RNA interference in neuroscience: progress and challenges

RNAi prevents and reverses phenotypes induced by mutant human ataxin-1.

Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation ⬇️

Residency training: a failed lumbar puncture is more about obesity than lack of ability

Sex-specific effects of the Huntington gene on normal neurodevelopment

Silencing neurodegenerative disease: bringing RNA interference to the clinic

Splice Isoforms of the Polyglutamine Disease Protein Ataxin-3 Exhibit Similar Enzymatic yet Different Aggregation Properties ⬇️

Substance abuse may be a risk factor for earlier onset of Huntington disease.

THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation.

Technology insight: therapeutic RNA interference--how far from the neurology clinic?

The inherited dystonias

Therapeutic RNA interference for neurodegenerative diseases: From promise to progress

Towards precision medicine

Two cases of pregnancy in Parkinson's disease